MCID: ACT215
MIFTS: 15

Actg2-Related Disorders

Categories: Nephrological diseases, Rare diseases

Aliases & Classifications for Actg2-Related Disorders

MalaCards integrated aliases for Actg2-Related Disorders:

Name: Actg2-Related Disorders 24 52
Actg2-Related Disorder 6

Characteristics:

GeneReviews:

24
Penetrance Thus far, penetrance of actg2-related disorders appears to be complete, as no family members heterozygous for a known actg2 pathogenic variant have been noted to be completely symptom free. however, the clinical severity can range within a family, and mildly affected individuals may not be aware of the diagnosis. examples: (1) one individual (in a multi-generation finnish family) with an actg2 pathogenic variant reported episodic mild abdominal pain but no surgery and no signs of visceral myopathy at age 19 years [lehtonen et al 2012]; (2) one individual diagnosed with "spastic colon" and irritable bowel syndrome had not required surgery or intervention in middle age [wangler et al 2014].

Classifications:



Summaries for Actg2-Related Disorders

NIH Rare Diseases : 52 ACTG2-related disorders are a subset of visceral myopathy (a condition where the intestine is unable to push food through but where there is not a real intestinal obstruction ) with variable involvement of the bladder and intestine. Bladder involvement can range from neonatal megacystis (a bladder with increased size) and megaureter (ureter abnormally wide) at the more severe end, to recurrent urinary tract infections and bladder dysfunction at the milder end. It includes three different conditions, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), Prune belly sequence or syndrome and chronic intestinal pseudoobstruction (CIPO). It is caused by alterations (mutations ) of the ACTG2 gene and is inherited in an autosomal dominant manner. Affected infants (with or without evidence of intestinal malrotation ) often present with feeding intolerance and findings of non-mechanical bowel obstruction that persist after successful surgical correction of malrotation. Individuals who develop manifestations of CIPO in later childhood or adulthood oftenhave episodic waxing and waning of bowel motility. They may need frequent abdominal surgeries (perhaps related to intestinal malrotation or adhesions causing mechanical obstruction) resulting in resection of dilated segments of bowel, often becoming dependent on total parenteral nutrition .

MalaCards based summary : Actg2-Related Disorders, also known as actg2-related disorder, is related to prune belly syndrome and visceral myopathy. An important gene associated with Actg2-Related Disorders is ACTG2 (Actin Gamma 2, Smooth Muscle). Affiliated tissues include smooth muscle, colon and heart.

GeneReviews: NBK299311

Related Diseases for Actg2-Related Disorders

Diseases related to Actg2-Related Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 prune belly syndrome 10.1
2 visceral myopathy 10.1
3 microcolon 10.1
4 acute cystitis 10.1
5 intestinal pseudo-obstruction 10.1
6 myopathy 10.1
7 intestinal obstruction 10.1
8 ileus 10.1
9 chronic intestinal pseudoobstruction 10.1

Graphical network of the top 20 diseases related to Actg2-Related Disorders:



Diseases related to Actg2-Related Disorders

Symptoms & Phenotypes for Actg2-Related Disorders

Drugs & Therapeutics for Actg2-Related Disorders

Search Clinical Trials , NIH Clinical Center for Actg2-Related Disorders

Genetic Tests for Actg2-Related Disorders

Anatomical Context for Actg2-Related Disorders

MalaCards organs/tissues related to Actg2-Related Disorders:

40
Smooth Muscle, Colon, Heart, Small Intestine, Skin

Publications for Actg2-Related Disorders

Articles related to Actg2-Related Disorders:

(show all 37)
# Title Authors PMID Year
1
Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution. 24
25782675 2015
2
A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome. 24
25407000 2015
3
Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction. 24
25575569 2015
4
New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome). 24
25998219 2015
5
Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm. 24
25282101 2014
6
Fetal megacystis: etiologies, management, and outcome according to the trimester. 24
24745800 2014
7
De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis. 24
24337657 2014
8
Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction. 24
24777424 2014
9
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. 24
24676022 2014
10
Gastrointestinal motility disorders in children. 24
24799835 2014
11
Megacystis-microcolon-intestinal hypoperistalsis syndrome: case report and review of prenatal ultrasonographic findings. 24
24577413 2014
12
Congenital mydriasis associated with megacystis microcolon intestinal hypoperistalsis syndrome. 24
23636104 2013
13
Chronic intestinal pseudo-obstruction. 24
23612903 2013
14
Tumor size as a prognostic factor in patients with node-negative gastric cancer invading the muscularis propria and subserosa (pT2-3N0M0 stage). 24
23159390 2013
15
Megacystis microcolon intestinal hypoperistalsis syndrome. 24
23729700 2013
16
Imaging findings in megacystis-microcolon-intestinal hypoperistalsis syndrome. 24
22926452 2013
17
Isolated intestinal transplantation for megacystis microcolon intestinal hypoperistalsis syndrome: case report. 24
23167913 2013
18
Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy. 24
22960657 2012
19
Outcome of prenatally detected bilateral higher urinary tract obstruction or megacystis: sex-related study on a series of 709 cases. 24
22544566 2012
20
R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations. 24
22302747 2012
21
Chronic intestinal pseudo-obstruction: clinical features, diagnosis, and therapy. 24
22100118 2011
22
Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. 24
22077972 2011
23
Megacystis microcolon intestinal hypoperistalsis syndrome: systematic review of outcome. 24
21792650 2011
24
Diffuse abnormal layering of small intestinal smooth muscle is present in patients with FLNA mutations and x-linked intestinal pseudo-obstruction. 24
20871226 2010
25
De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. 24
20734336 2010
26
Three-generation familial visceral myopathy with alpha-actin-positive inclusion bodies in intestinal smooth muscle. 24
19098683 2009
27
Association of Shah-Waardenburgh syndrome: a review of 6 cases. 24
18405726 2008
28
Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement. 24
17357080 2007
29
Gene locus ambiguity in posterior urethral valves/prune-belly syndrome. 24
15912376 2005
30
Megacystis microcolon intestinal hypoperistalsis syndrome. 24
15770589 2005
31
Crystal structure of monomeric actin in the ATP state. Structural basis of nucleotide-dependent actin dynamics. 24
12813032 2003
32
Urological manifestations associated with chronic intestinal pseudo-obstructions in children. 24
12352356 2002
33
Multiorgan autonomic dysfunction in mice lacking the beta2 and the beta4 subunits of neuronal nicotinic acetylcholine receptors. 24
10531434 1999
34
Megacystis, mydriasis, and ion channel defect in mice lacking the alpha3 neuronal nicotinic acetylcholine receptor. 24
10318955 1999
35
The urological manifestations of hollow visceral myopathy in children. 24
9258196 1997
36
Diagnosis and treatment of chronic intestinal pseudo-obstruction in children: report of consensus workshop. 24
9093995 1997
37
ACTG2-Related Disorders 61
26072522 2015

Variations for Actg2-Related Disorders

ClinVar genetic disease variations for Actg2-Related Disorders:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ACTG2 NM_001615.4(ACTG2):c.478G>A (p.Val160Ile)SNV not provided 684544 2:74140638-74140638 2:73913511-73913511

Expression for Actg2-Related Disorders

Search GEO for disease gene expression data for Actg2-Related Disorders.

Pathways for Actg2-Related Disorders

GO Terms for Actg2-Related Disorders

Sources for Actg2-Related Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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32 ICD10
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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